Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling.

Tsuji J, Rickles-Young M, Abreu J, Friedman A, Petersen C, Bryan J, Scheffler K, O'Connell T, Heyns T, Malolepsza E, Fleharty M, Larkin K, Livak KJ, Li S, Reardon DA, Wu CJ, Ott PA, Dao F, Rehm H, Jan M, Stewart C, Getz G, Jain V, Catreux S, Cibulskis C, Lennon N.

Open source

DOI: 10.1038/s41525-026-00569-w
Published: 2026-04-10
Container: NPJ Genom Med
Publisher: Not recorded
Open access: yes

Credibility signals

uncertain Score 53/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
supportingDirectory of Open Access Journals: A matching record was returned by DOAJ. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1038/s41525-026-00569-w,
  title = {Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling.},
  author = {Tsuji J and  Rickles-Young M and  Abreu J and  Friedman A and  Petersen C and  Bryan J and  Scheffler K and  O'Connell T and  Heyns T and  Malolepsza E and  Fleharty M and  Larkin K and  Livak KJ and  Li S and  Reardon DA and  Wu CJ and  Ott PA and  Dao F and  Rehm H and  Jan M and  Stewart C and  Getz G and  Jain V and  Catreux S and  Cibulskis C and  Lennon N.},
  year = {2026},
  journal = {NPJ Genom Med},
  doi = {10.1038/s41525-026-00569-w},
  url = {https://doi.org/10.1038/s41525-026-00569-w}
}

RIS

TY  - JOUR
TI  - Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling.
AU  - Tsuji J
AU  -  Rickles-Young M
AU  -  Abreu J
AU  -  Friedman A
AU  -  Petersen C
AU  -  Bryan J
AU  -  Scheffler K
AU  -  O'Connell T
AU  -  Heyns T
AU  -  Malolepsza E
AU  -  Fleharty M
AU  -  Larkin K
AU  -  Livak KJ
AU  -  Li S
AU  -  Reardon DA
AU  -  Wu CJ
AU  -  Ott PA
AU  -  Dao F
AU  -  Rehm H
AU  -  Jan M
AU  -  Stewart C
AU  -  Getz G
AU  -  Jain V
AU  -  Catreux S
AU  -  Cibulskis C
AU  -  Lennon N.
PY  - 2026
JO  - NPJ Genom Med
DO  - 10.1038/s41525-026-00569-w
UR  - https://doi.org/10.1038/s41525-026-00569-w
ER  -

APA

J, T., M, R., J, A., A, F., C, P., J, B., K, S., T, O., T, H., E, M., M, F., K, L., KJ, L., S, L., DA, R., CJ, W., PA, O., F, D., H, R., M, J., C, S., G, G., V, J., S, C., C, C., & N., L. (2026). Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling.. NPJ Genom Med. https://doi.org/10.1038/s41525-026-00569-w

Source records

europe-pmc · retrieved 2026-09-27T09:22:57.476Z
doaj · retrieved 2026-09-27T09:22:57.492Z